Rare Disease Library

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Hemophagocytic syndrome associated with an infection

IAHS · VAHS

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

Periodic fever syndrome

Syndrome associated with dilated cardiomyopathy

Syndrome associated with hypertrophic cardiomyopathy

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome